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JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia.

ABSTRACT: The analysis of individuals with severe congenital neutropenia (SCN) may shed light on the delicate balance of factors controlling the differentiation, maintenance and decay of neutrophils. We identify 9 distinct homozygous mutations in the JAGN1 gene encoding Jagunal homolog 1 in 14 individuals with SCN. JAGN1-mutant granulocytes are characterized by ultrastructural defects, a paucity of granules, aberrant N-glycosylation of multiple proteins and increased incidence of apoptosis. JAGN1 participates in the secretory pathway and is required for granulocyte colony-stimulating factor receptor-mediated signaling. JAGN1 emerges as a factor that is necessary in the differentiation and survival of neutrophils.

SUBMITTER: Boztug K 

PROVIDER: S-EPMC4829076 | biostudies-literature | 2014 Sep

REPOSITORIES: biostudies-literature

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JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia.

Boztug Kaan K   Järvinen Päivi M PM   Salzer Elisabeth E   Racek Tomas T   Mönch Sebastian S   Garncarz Wojciech W   Gertz E Michael EM   Schäffer Alejandro A AA   Antonopoulos Aristotelis A   Haslam Stuart M SM   Schieck Lena L   Puchałka Jacek J   Diestelhorst Jana J   Appaswamy Giridharan G   Lescoeur Brigitte B   Giambruno Roberto R   Bigenzahn Johannes W JW   Elling Ulrich U   Pfeifer Dietmar D   Conde Cecilia Domínguez CD   Albert Michael H MH   Welte Karl K   Brandes Gudrun G   Sherkat Roya R   van der Werff Ten Bosch Jutte J   Rezaei Nima N   Etzioni Amos A   Bellanné-Chantelot Christine C   Superti-Furga Giulio G   Penninger Josef M JM   Bennett Keiryn L KL   von Blume Julia J   Dell Anne A   Donadieu Jean J   Klein Christoph C  

Nature genetics 20140817 9

The analysis of individuals with severe congenital neutropenia (SCN) may shed light on the delicate balance of factors controlling the differentiation, maintenance and decay of neutrophils. We identify 9 distinct homozygous mutations in the JAGN1 gene encoding Jagunal homolog 1 in 14 individuals with SCN. JAGN1-mutant granulocytes are characterized by ultrastructural defects, a paucity of granules, aberrant N-glycosylation of multiple proteins and increased incidence of apoptosis. JAGN1 particip  ...[more]

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